Canonical Allele Identifier: CA1087852163

Gene: LHFPL5

Linked Data

• dbSNP Id: rs1768925503
• gnomAD v3: 6-35823885-T-TGGCATATA
• gnomAD v4: 6-35823885-T-TGGCATATA

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35823887_35823894dup , CM000668.2:g.35823887_35823894dup	GRCh38
NC_000006.11:g.35791664_35791671dup , CM000668.1:g.35791664_35791671dup	GRCh37
NC_000006.10:g.35899642_35899649dup	NCBI36
NG_012184.1:g.23594_23601dup
NG_012184.2:g.23594_23601dup
NG_012184.3:g.31682_31689dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360215.3:c.*922_*929dup MANE Select	ENSP00000353346.1:n.*922_*929dup
ENST00000496656.2:n.578+4067_578+4074dup
ENST00000651132.1:c.*922_*929dup	ENSP00000498322.1:n.*922_*929dup
ENST00000651676.1:c.*16+4424_*16+4431dup	ENSP00000498699.1:n.*16+4424_*16+4431dup
ENST00000652718.1:c.508+4424_508+4431dup	ENSP00000498866.1:n.508+4424_508+4431dup
ENST00000360215.2:c.*922_*929dup	ENSP00000353346.1:n.*922_*929dup
ENST00000496656.1:n.812+4067_812+4074dup
NM_182548.3:c.*922_*929dup	NP_872354.1:n.*922_*929dup
NM_182548.4:c.*922_*929dup MANE Select	NP_872354.1:n.*922_*929dup